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用Setmelanotide治疗的LEPR缺陷的儿童发生瘤

Hatice Nursoy¹, Yasemin Denkboy Öngen¹, Ferdi Öztürk²

¹Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Uludağ University, Bursa, Türkiye.

Journal of clinical research in pediatric endocrinology

|August 21, 2025

概括

用于单一性肥胖症的setmelanotide可能会导致儿童的皮肤多颜色和皮肤瘤. 这首儿科LEPR病例突显了潜在的黑色皮质素-1受体效应.

科学领域:

内分泌学
遗传学
皮肤病学

背景情况:

塞特梅拉诺提德已被批准用于与POMC,LEPR,PCSK1突变或Bardet- Biedl综合征相关的罕见单基性肥胖症.
它向黑色皮质素-4受体 (MC4R),但也对黑色皮质素-1受体 (MC1R) 具有微弱的刺激作用,可能会影响色素.

研究的目的:

在患有LEPR相关单一性肥胖症的患者中报告第一个儿科病例.

主要方法:

一个12岁男孩的病例报告同胞性LEPR突变治疗setmelanotide.
监测皮肤颜色变化,包括.
切除并对两种斑块进行细胞病理学检查,观察到有色素变化.

主要成果:

患者在开始服用setmelanotide后出现了皮肤多颜色和瘤变黑.
切除的神经元的组织病理学显示出失生性特征.
这表明潜在的MC1R介导的黑色细胞活动.

结论:

在患有LEPR突变的儿科患者中,setmelanotide治疗可能会导致异形瘤的发展.
需要进一步研究MC1R介导的副作用.
由于这些发现,暂时停止治疗.

关键词:

其他国家单一性肥胖症发生瘤黑色素瘤塞梅拉诺提德

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